List of Investigations
New investigation :
- Plasma Chitotriosidase: For monitoring therapy in Gauchers disease and also for diagnosis of Gaucher, Fucosidosis as an additional investigation
- Niemann Pick type C: Fibroblast study for lipid storage:
- Microdeletion syndrome: DeGeorge and PraderVilli study by FISH:
- COMET ASSAY: For Genotoxicity study
- SCE study: For Genetoxicity study
Cytogenetic Study
| SNo. |
Test |
| 1 |
Blood Lymphocyte Culture |
| 2 |
Abortus Chromosome Study |
| 3 |
Bone Marrow for Cancer Genetics |
| 4 |
Chorionic Villus Study |
| 5 |
Amniotic Fluid Culture |
| 6 |
Skin Fibroblast |
| 7 |
Fragile - X Study |
| 8 |
Chromosome breakage syndrome |
| 9 |
Cord Blood Prenatal |
| 10 |
Cord Blood Abortus |
Biochemical Study
| |
Investigations |
| 1 |
Urine For Metabolic D/O With Paper Chromatography |
| 2 |
Urine For MPS Study (Gag Quantitation) |
| 3 |
TLC for Sugar |
| 4 |
Leukocytes Enzymes for lysosomal Storage (all)
: 13 Enzymes :(14 enzymes) |
Investigations For Lysosomal Enzymes
| |
Test |
Clinical diagnosis |
| a | Galactosidase |
MPS IV |
| b | - Galactosidase |
Fabry's disease |
| c | Arylsulfatase-A |
MLD |
| d | Arylsulfatase-B |
MPS VI |
| e | Glucosidase |
Gaucher's disease |
| f | - Glucosidase |
Pompe's Disease; Glycogen Storage-Type II |
| g | Glucuronidase |
MPS VII (SLY Syndrome) |
| h | - Mannosidase |
MPS like features |
| i | Hexoaminidase Total |
Sandhoff's disease |
| j | Hexoaminidase A |
Tay-Sach's disease |
| k | Sphingomyelinase |
Niemen-Pick disease |
| l | Iduronidase |
MPS-l |
| m | Fucosidase |
Fucosidosis |
| n | N-Acetyl-Alpha-D-Glucosaminidase |
MPS III (Sanfilipp B) |
o |
Fillipin stain of Fibroblast |
NimenPick Type C |
p |
Sialic Acid (Free and total) |
Sialiacidosis |
| |
Test |
| 5 |
Galactose-Ehydrogenase (Galactosemia) |
| 6 |
Lactate/Pyruvate/Amonia(For Pyru. Decarboxylase Deficiency Type A&B,Mitochondrial Dis. |
| 7 |
Triple Marker Screening For Downs Syndrome,Trisomy Of 13,18&21,Afp,Hcg & Estriol |
| 8 |
First Trimester Screening by PAPA & HCG |
| 9 |
Only Afp (Ntd's) |
| 10 |
Ceruloplasmin (Wilson Di.Sease) |
| 11 |
Prenatal Diagnosis Of Lysosomal Storage Disorder From CVS & Amniotic Fluid |
Molecular Genetics
| |
Test |
| 1 |
-THALASSAEMIA-Mutation Analysis |
| 2 |
Duchenne Muscular Distrophy |
| 3 |
Spinal Muscular Atrophy |
| 4 |
Hemophilia A & B |
| 5 |
RETT Mutation For MECP2 Gene |
| 6 |
Non Syndromic Hearing Loss Deafness GJB-2 mutation |
| 7 |
Oculocutaneous Albinism Fgfr-3 For Achondroplasia |
| 7 |
‘Y' Deletion Study |
| 8 |
Fragile ‘X' By CGG Repeat |
| 9 |
Spinocerebrellar Ataxia |
| 10 |
Cystic Fibrosis By D508 Mutation |
| 11 |
Myotonic Dystrophy |
| 12 |
MTHFR - Gene Mutation C677T |
| 13 |
Paternity Test |
Molecular Cytogenetics:
We Have Availability Of Following Fish Probes Studies :
| |
Test |
| 1 |
BCR/ABL TRANSLOCATION Dual colour dual fusion |
| 2 |
CEP. 8 |
| 3 |
DiGeorge syndrome |
| 4 |
XX/XY ratio:for sex mismatched bone marrow transplant |
| 5 |
WCP-21 |
| 6 |
Multivision Probe for Trisomy 13,21 X&Y |
Prenatal Diagnosis :
| |
Test |
| 1 |
β-Thalassemia From CVS (Includes Two Parent) |
| 2 |
β-Thalassemia From Amniotic Fluid (Includes Two Parent) |
| 3 |
DMD with known deletion |
| 4 |
Hemophilia A&B |
| 5 |
Fragile ‘X'-By Cytogenetics & CGG Repeat |
| 6 |
Autosomal Recessive Lamellar Icthyosis |
| 7 |
SMA |
| 8 |
Connexin Gene – Gjb2 |
| 9 |
OCA – 1 Common Indian Mutation |
Miscellaneous:
| 1 |
DNA Isolation & Storage |
* Please note that in all prenatal single gene disorders, index case diagnosis by molecular study is needed.